Wilson Disease Treatment in Turkey
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What is Wilson Disease?
Wilson disease is a rare inherited disorder of copper metabolism caused by pathogenic variants in the ATP7B gene. The condition prevents the body from properly transporting and eliminating excess copper, causing copper to accumulate primarily in the liver and, in some patients, the brain, eyes and other organs. Wilson disease can cause liver disease, neurological or movement disorders, psychiatric symptoms and other systemic complications. It is inherited in an autosomal recessive pattern.
What is the Importance of Timely Treatment?
Timely diagnosis and lifelong treatment are important because progressive copper accumulation can cause irreversible liver and neurological damage. Early treatment can reduce copper accumulation, prevent further organ injury and help control existing symptoms. Individuals with severe liver failure or disease that does not respond adequately to medical treatment may require liver transplantation.
What are the Common Symptoms of Wilson Disease?
- Jaundice or yellowing of the skin and eyes
- Abdominal swelling or discomfort
- Fatigue and weakness
- Enlarged liver or spleen
- Abnormal liver function
- Tremors
- Muscle stiffness or dystonia
- Problems with coordination or walking
- Difficulty speaking or swallowing
- Involuntary movements
- Difficulty with handwriting or fine movements
- Mood or behavioural changes
- Depression or anxiety
- Cognitive changes
- Kayser-Fleischer rings around the cornea
- Episodes of hemolytic anemia
Causes and Risk Factors of Wilson Disease
Causes
- Wilson disease is caused by pathogenic variants in both copies of the ATP7B gene, which provides instructions for a copper-transporting protein that incorporates copper into ceruloplasmin and eliminates excess copper through bile.
- Impaired ATP7B function leads to progressive copper accumulation in tissues.
Risk Factors
- Having pathogenic variants in both copies of the ATP7B gene
- Having a sibling or close relative with Wilson disease
- Having parents who are carriers of an ATP7B pathogenic variant
- Family history of unexplained liver disease or neurological symptoms
- Consanguinity in families, which can increase the likelihood of autosomal recessive disorders
Latest Research and Technologies in the Treatment of Wilson Disease in Turkey
- Advances in Wilson disease care focus on earlier diagnosis, genetic testing, improved assessment of copper accumulation and long-term monitoring of treatment response. The Leipzig scoring system can help integrate clinical, biochemical and genetic findings when establishing the diagnosis. Turkish research has also examined genetic variants in patients with Wilson disease. Genetic and molecular research is also improving understanding of ATP7B variants and may support more personalised approaches to diagnosis and treatment. Liver transplantation remains an important option for selected patients with acute liver failure or advanced disease that does not respond adequately to medical therapy.
Treatment options for Wilson Disease
Liver Transplantation : Liver transplantation may be considered for patients with acute liver failure, severe decompensated liver disease or inadequate response to appropriate medical treatment.
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Copper-Lowering Medical Treatment: Lifelong treatment helps remove excess copper from the body or reduce its absorption, preventing further accumulation and organ damage.
Long-Term Monitoring: Regular assessment of liver function, copper levels, treatment response and possible adverse effects helps guide ongoing care and identify complications.
- Clinical assessment:
- Medical and Neurological Evaluation: Detailed medical and family history, along with neurological examination and assessment of liver-related symptoms and signs.
- Copper and Liver Function Testing: Serum ceruloplasmin, serum copper, 24-hour urinary copper, liver function tests, coagulation profile and complete blood count help assess copper metabolism and organ involvement.
- Eye Examination: A slit-lamp examination is performed to detect Kayser-Fleischer rings, which result from copper deposition in the cornea.
- Genetic and Hepatic Evaluation: ATP7B genetic testing can help confirm the diagnosis. Liver biopsy with quantitative hepatic copper measurement may be considered when the diagnosis remains uncertain.
- Leipzig Scoring System: The Leipzig score combines clinical findings, copper studies, Kayser-Fleischer rings and genetic results to support the overall diagnosis of Wilson disease.
- Imaging Tests:
- Abdominal Ultrasound: Helps assess liver structure, cirrhosis, portal hypertension and other liver abnormalities.
- Liver Doppler Ultrasound: Evaluates blood flow in the portal and hepatic vessels, particularly when portal hypertension is suspected.
- Brain MRI: May identify characteristic abnormalities in patients with neurological Wilson disease and can help assess the extent of neurological involvement.
- CT Scan: May be used in selected cases when additional structural information is required.
- Elastography: May help assess liver stiffness and the degree of liver fibrosis.
- Slit-Lamp Examination: Although not an imaging test of the liver, this specialised eye examination can identify Kayser-Fleischer rings caused by copper deposition.
MediRehab (a chain of Rehab centres, part of MediGence) provides comprehensive tele-rehabilitation services designed to support Wilson Disease patients in Turkey. These services include:
- Physiotherapy: Helps address muscle stiffness, tremors, balance problems, weakness and gait difficulties.
- Occupational Therapy: Supports independence in daily activities and helps patients manage coordination and fine motor challenges.
- Speech and Swallowing Therapy: May help patients with speech, communication or swallowing difficulties caused by neurological involvement.
- Neurorehabilitation: Structured rehabilitation can address movement disorders, coordination problems and other neurological limitations.
- Nutritional and Psychological Support: Dietitians can support appropriate copper intake and nutritional needs, while psychological support can help manage mood, behavioural and adjustment-related difficulties.
- Medical treatment for Wilson disease is lifelong and aims to reduce excess copper and prevent further accumulation. Copper-chelating medicines increase urinary copper excretion, while zinc salts reduce intestinal copper absorption and may be used in selected patients. Additional medicines may be prescribed to manage neurological, psychiatric, liver-related or other complications. Regular monitoring of liver function, blood counts, urinalysis, serum copper, and urinary copper helps assess treatment effectiveness and safety.
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Hospitals for Wilson Disease in Turkey
Medicana Camlica Hospital
Istanbul, Turkey
Medicana Camlica Hospital located in Istanbul, Turkey is accredited by JCI. Also listed below are some of the most prominent infrastructural details:
- 150 bedded Hospital
- Specialty-based clinics
- Fully-equipped patient rooms
Memorial Sisli Hospital
Istanbul, Turkey
Memorial Sisli Hospital located in Istanbul, Turkey is accredited by JCI. Also listed below are some of the most prominent infrastructural details:
- Operates in a closed area of 53,000 sqm
- Capacity of 252 beds
- 13 Operating rooms
- 4 Intensive Care Units (KVC, General, Coronary, Neonatal)
- 3 Laboratories
- Organ Transplantation Center
- IVF Center
- Genetic Center
- Stroke Center
- Breast Health and Disease Center
- Oncology Center
- Da Vinci Robotic Surgery Center
- Bone Marrow Transplantation Center
Florence Nightingale Hospital
Istanbul, Turkey
The first green hospital in Turkey, Istanbul Florence Nightingale Hospital, was inaugurated in 2013. Group The Florence Nightingale hospitals are the first Turkish hospitals to be granted Joint Commission International (JCI) accreditation, and they continue to be associated and work with esteemed healthcare organizations.
The Florence Nightingale Group treats 250,000 outpatients and 70,000 inpatients annually, demonstrating its excellence. The hospitals have a capacity of 804 inpatient beds, 141 ICU beds, and 40 operating rooms, and perform 20,000+ procedures annually, of which 1,000 are cardiac operations for children and 2,000 are for adults. For conducting difficult orthopedic, general surgery, minimally invasive, and other heart treatments, the facility stands out. All operating rooms can be interconnected by audio-visual to a 300-person conference room and global hubs, enabling interactive medical teaching and scientific activity.
Interpreter and translator services for languages such as Turkish, Azerbaijani, Bulgarian, Arabic, English, Persian, Serbian, Russian, Albanian, Macedonian, German, Bosnian, and Romanian are available.
The hospital has specialized departments such as Cardiology and Cardiac Surgery, IVF and Infertility, Nephrology, Oncology and Oncosurgery, Spine Surgery, Neurology and Neurosurgery, Orthopedics, Gynecology, and Obesity or Bariatric Surgery. With an extensively qualified and experienced team of advisors and interpreters, Florence Nightingale Istanbul is committed to providing one-stop service from beginning to end, 24 hours a day, 7 days a week.
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Why Choose Turkey for Wilson Disease Treatment?
- Multidisciplinary Specialist Care: Patients can access hepatologists, neurologists, gastroenterologists, genetic specialists, transplant physicians and rehabilitation professionals.
- Advanced Diagnostic Facilities: Major centres may offer copper studies, genetic testing, liver assessment, brain MRI and specialised ophthalmological evaluation.
- Comprehensive Medical Management: Specialised teams can provide long-term chelation, zinc therapy, nutritional management and monitoring of treatment response.
- Liver Transplantation Services: Selected centres provide liver transplantation for patients with acute liver failure or advanced liver disease requiring transplant evaluation.
- Rehabilitation and Long-Term Support: Physiotherapy, occupational therapy, speech therapy, nutritional care and psychological support can be integrated according to individual needs.
Frequently Asked Questions
Reviewer
Dr. Akash Khandelwal
Hematologist
9 Years of Experience
Dr. Akash Khandelwal is a distinguished Hematologist, Hemato-oncologist, and Bone Marrow Transplant (BMT) Physician with extensive training from the prestigious AIIMS New Delhi. His expertise encompasses a wide range of specialized techniques in bone marrow transplantation, including autologous and allogeneic transplants such as matched sibling donors, matched unrelated donors (MUD), and haploidentical donor transplants. Dr. Khandelwal has personally supervised and conducted over 100 bone marrow transplants. View More
Last Reviewed - January 2026